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PubMed2006

Mild dehydrated hereditary stomatocytosis revealed by marked hepatosiderosis.

We report a patient in whom hepatosiderosis was diagnosed at the age of 55 years and who has since been treated by regular bleeding. The H63D mutation was found in the heterozygous state in the HFE gene. No mutation was recorded in the SLC11A3 gene (ferroportin). Hepatosiderosis did not seem primary, nevertheless its cause long remained elusive. Only 2 years ago did we find the responsible condition, a very mildly expressed form of dehydrated hereditary stomatocytosis (DHS). This genetic disease is a strongly iron-loading condition. Haemolysis was fully compensated. Kalaemia was slightly elevated, suggesting a pseudohyperkalaemia that may be associated with DHS. Osmotic gradient ektacytometry allowed to assess the diagnosis of DHS. The red cell monovalent Na+ and K+ concentrations were moderately elevated and reduced respectively. The temperature dependence of the ouabain + bumetanide-resistant K+ influx produced a shallow slope, above and parallel to the control curve. These features were consistent with the diagnosis of DHS. The pronounced hepatosiderosis contrasted with the mildly expressed DHS, and with the ferritinaemia that was slightly elevated, if at all, prior to bleeding. Bleeding caused ferritinaemia to decrease and hepatosiderosis to recede. The whole picture accounts for a misleading presentation of DHS, in which the primary condition long remained hidden behind one of its remotest complications, hepatosiderosis.

Aged↗
PubMed1984

Pituitary and thyroid insufficiency in thalassaemic haemosiderosis.

Thyroid and pituitary function tests using hypothalamic releasing factors were performed in seven patients with thalassaemia and secondary haemosiderosis and in a control group of seven healthy subjects. The TSH level in the thalassaemic patients (18.07 +/- 1.10 microU/ml) was higher than in the controls (1.01 +/- 0.14 microU/ml, P less than 0.001). After TRH administration the TSH values increased less than in controls. Serum thyroxine and FT41 values were lower in the group of patients with thalassaemia (76.7 +/- 7.8 nmol/l and 19.3 +/- 2.2) compared to the controls (116.1 +/- 6.9 nmol/l, P less than 0.005 and 38.6 +/- 3.6, P less than 0.001). The basal prolactin values did not differ significantly between the two groups, but after TRH administration the increment was significantly lower in thalassaemics than in controls (P less than 0.005). The basal LH values were lower in the thalassaemic patients (1.37 +/- 0.24 ng/ml) than in the controls (3.23 +/- 0.50 ng/ml) and did not increase significantly after LHRH administration. The FSH values were also lower in the thalassaemic group (0.46 +/- 0.15 ng/ml) compared to the controls (2.06 +/- 0.08 ng/ml, P less than 0.001), and increased only slightly after LHRH administration. We conclude that in thalassaemia pituitary deficiency exists, mostly of gonadotrophs, but possibly also for the thyrotrophs and the lactotrophs. Latent primary hypothyroidism has also been found in the thalassaemic group. The functional abnormalities found in both endocrine glands are best explained as a consequence of coexisting haemosiderosis.

Adolescent↗
PubMed1978

Capillary haemangiomatosis of the lungs.

A case of capillary haemangiomatosis affecting both lungs. The angiomatous growth involved particularly the intralobular fibrous septa and appeared locally aggressive as it had destroyed and obstructed the pulmonary veins and venules. Some pulmonary arteries and bronchi were affected to a lesser extent. Pulmonary venous obstruction, sometimes simulating pulmonary veno-occlusive disease, caused severe haemosiderosis and interstitial fibrosis. The clinical features and the lung biopsy erroneously suggested a diagnosis of primary pulmonary haemosiderosis. No comparable case has been found in the literature.

Aged↗
PubMed2006

Haemosiderotic fibrolipomatous tumour (so-called haemosiderotic fibrohistiocytic lipomatous tumour): analysis of 13 new cases in support of a distinct entity.

AIMS: To describe 13 new cases of a rare soft tissue neoplasm currently known as haemosiderotic fibrohistiocytic lipomatous tumour (HFHLL) and to further its characterization. METHODS AND RESULTS: Patients were eight females and five males, aged 8 months to 74 years. Lesions ranged in size from 10 to 130 mm (median 45). Twelve of 13 lesions were located in the ankle/foot region; one involved the hand. Grossly the lesions were fatty/gelatinous or lipoma-like. They were characterized by varying proportions of mature adipocytes and fibroblastic spindle cells, associated with haemosiderin pigment present predominantly in macrophages within the spindle cell component. Dissecting between adipocytic lobules were septa containing short spindle cells with streaming, swirling or honeycomb growth patterns. Most tumours contained scattered osteoclast-like giant cells. Mitoses were rare and only one case showed mild atypia. Immunohistochemistry in 10 cases showed 7/9 CD34+; all were negative for smooth muscle actin, CD68, S100 and desmin. Follow-up in nine cases ranging from 1 to 130 months (median 12) showed local recurrence in three but no metastasis. CONCLUSIONS: So-called HFHLL, better termed haemosiderotic fibrolipomatous tumour, is a distinct lesion characterized by an admixture of fibroblastic spindle cells, mature adipocytes and haemosiderin pigmentation, shows a predilection for the distal extremities and quite often recurs locally.

Adult↗
PubMedDate not supplied

General disease in 120 necropsy-proven cases of multiple sclerosis.

The general pathology in 120 necropsy-proven cases of multiple sclerosis has been compared with that of matched neurological and general controls. There was no significant difference in the incidence of coronary thrombosis, myocardial infarction, cerebral haemorrhage, thyroid atrophy and splenic haemosiderosis. There was also no significant difference in malignancy in the three groups. The implications of these findings with particular reference to immunopathology are discussed. 74% of patients with multiple sclerosis died from complications of the disease; 26% died from apparently unrelated diseases.

Adolescent↗
PubMed1996

Alcohol and iron: one glass of red or more?

The consumption of excessive amounts of alcohol affects human iron homeostasis and an association of iron overload and heavy alcohol consumption has been recognized for many years. Both major proteins of iron metabolism, ferritin and transferrin, are affected by alcohol. Increased hepatic iron levels are seen in a high proportion of alcoholic subjects, sometimes causing confusion in diagnosis between alcoholic liver disease and iron-overload disease. The pattern of deposition of this iron in alcoholics, however, differs from that seen in the iron-overload disease haemochromatosis. Excessive alcohol consumption causes transferrin to become carbohydrate deficient, which allows it to be used as an efficient biochemical marker of alcohol abuse. It is concluded that alcohol consumption in moderation is unlikely to have deleterious health consequences.

Alcohol Drinking↗
PubMed2005

Human leukocyte antigen haplotypes and HFE mutations in Spanish hereditary hemochromatosis and sporadic porphyria cutanea tarda.

BACKGROUND AND AIMS: It has been postulated that the HFE C282Y mutation (linked to human leukocyte antigen [HLA]-A3-B7 haplotype) is not only responsible for hereditary hemochromatosis; HLA class I alleles would also contribute to the disease pathogenesis. In addition, H63D mutation linked to HLA-A29-B44 would also be pathogenetic, particularly in the Mediterranean Basin and throughout the world. However, sporadic porphyria cutanea tarda (s-PCT) has also been linked to these HFE mutations. In the present work, we have studied HFE mutations and HLA genes to test these hypotheses. METHODS: C282Y and H63D mutations together with HLA genetic typing have been performed in Spanish hereditary hemochromatosis (n = 98) and PCT (n = 63) patients. The etiologic fraction (delta) has been used to determine the absolute strongest gene linkage to both diseases. RESULTS: The Spanish frequent HLA-A29-B44 haplotype is not significantly associated to the H63D mutations in hereditary hemochromatosis patients (although it is found more frequently in patients than in controls). Sporadic porphyria cutanea tarda patients do not show a significant association to H63D mutations, although it is also more frequent than in controls; however, compound H63D/C282Y subjects seem to bear a significant risk to s-PCT. Allelic C282Y (and not H63D) frequencies show a significant association with s-PCT. CONCLUSIONS: The postulated additional risk of hereditary hemochromatosis given by class I HLA antigens may be secondary to the HFE gene linkage disequilibrium with certain class I alleles or to the existence of other neighboring genetic pathogenetic factors in our Spanish sample.

Alleles↗
PubMed2006

Hemosiderotic fibrohistiocytic lipomatous lesion: early pleomorphic hyalinizing angiectatic tumor?

Hemosiderotic fibrohistiocytic lipomatous lesion (HFLL) and early pleomorphic hyalinizing angiectatic tumor (PHAT) are characterized histologically by an admixture of fat, moderately cellular fascicles of hemosiderin-laden spindle cells growing in a perivascular, periadipocytic and septal pattern, as well as the presence of macrophages and chronic inflammatory cells. In contrast to a suggested reactive nature of HFLL, PHAT is regarded as a non-metastasizing tumor of uncertain lineage in the recent World Health Organization classification of soft tissue tumors. Reported herein is the case of a 47-year-old woman with an unencapsulated and irregularly circumscribed recurring lesion in the ankle/foot region that developed following ankle distortion and that fulfills histological criteria for both HFLL and early PHAT. In summary, the present case suggests a reactive over-neoplastic nature of HFLL and confirms profound histological similarities with early PHAT. Until more data become available on the biological potential of HFLL/early PHAT, radical surgical excision and follow up of the patient remains the best treatment option.

Angiofibroma↗
PubMed1995

Periventricular haemosiderin deposition in patients with congenital hemiplegia.

Two patients with congenital hemiplegia without obvious prenatal, perinatal or neonatal difficulties showed linear low signal intensity lesions along the wall of the dilated lateral ventricles without any parenchymal lesions on T2- and proton density weighted MRI. Haemosiderin deposition secondary to intra-uterine subependymal haemorrhage with intraventricular haemorrhage was considered most likely from the signal intensity, distribution and clinical histories. MRI, which is the only means of detecting haemosiderin deposition, could be beneficial for evaluating the pathogenetic cause of congenital hemiplegia.

Cerebral Ventricles↗
PubMed2005

Unusual findings in brain biopsies of two patients with acute magnetic resonance imaging lesions associated with focal seizures.

PURPOSE: Patients with focal seizures often have magnetic resonance imaging (MRI) abnormalities in the brain region of their presumed seizure focus. Neoplasms, ischemic infarctions, inflammatory processes, and other specific pathologic entities have been diagnosed by biopsies of such MRI abnormalities. Two patients with this presentation had brain lesion biopsies with a leading presumptive diagnosis of glial neoplasm but were found to have indistinct histopathology. METHODS: Each patient was initially seen with focal seizures (right parietal region, right hippocampus) corresponding with focally increased T2 signal on MRI. In both patients, the preoperative clinical suspicion was for neoplastic or inflammatory processes. RESULTS: Several weeks after seizure onset, craniotomy in patient 1 and stereotactic needle biopsy in patient 2 revealed mild gliosis with reactive vascular changes and perivascular hemosiderin deposition, not diagnostic of but compatible with venous congestion (or possibly venous thrombosis). Postoperatively, patient 1 had brief sensory seizures that stopped 5 months after surgery, whereas subsequent seizures did not develop in patient 2. Both patients had normalization of their MRI (except for postoperative changes) and have remained seizure free. CONCLUSIONS: We describe two patients who had brain biopsies of striking focal increased T2 signal MRI abnormalities associated with seizures. Pathologic findings contradicted our preoperative suspicions (neoplasm or inflammatory process), compatible with (but not conclusive for) subacute venous congestion/thrombosis. These findings indicate that patients with seizures may have an associated discrete intraaxial MRI lesion that is not neoplastic. To our knowledge, this is the first report of focal seizure-associated MRI lesions with biopsy findings compatible with venous congestion/thrombosis.

Adult↗
PubMed2005

Predicting posttraumatic epilepsy with MRI: prospective longitudinal morphologic study in adults.

PURPOSE: Evaluation of morphologic risk factors for posttraumatic epilepsy (PTE) by using brain magnetic resonance imaging (MRI) in serial assessments <or=2 years after traumatic brain injury (TBI). METHODS: Brain MRI hyperintense (gliosis) or hypointense (hemosiderin) areas or both were assessed in the images of 135 adult TBI inpatients who completed a 2-year clinical, EEG, and MRI study protocol. Overall clinical follow-up for the development of PTE was 5-10 years (median, 102 months). Morphologic risk factors for PTE were evaluated by using Kaplan-Meier curves and Cox regression analysis. RESULTS: In 20 patients, PTE developed. Kaplan-Meier curves showed that gliomesenchymal sequelae of focal brain lesions (subdural hematomas/contusions) that required surgical treatment (sSDH-C) were a PTE risk factor (p<0.001), as were sequelae of nonsurgical hemorrhagic contusions with gliosis wall incompletely surrounding hemosiderin dregs (IW) (p=0.039) and mainly those with time-related changes from incomplete to complete gliosis wall around hemosiderin (I/CW) (p=0.005); those with early hemosiderin completely surrounded by gliosis (CW) were not (p=0.821). Cox regression analysis showed that for patients with sequelae of sSDH-C, the PTE risk was 4.38 (p=0.023) times higher than for those who did not require surgical treatment or underwent surgery because of purely extradural hematoma; for those with IW and I/CW lesions, considered pooled, it was 6.61 times higher (p=0.014) than for those with CW lesions. CONCLUSIONS: MRI follow-up examination in the early chronic stage can differentiate among low-, intermediate-, and high-risk sequelae of TBI. These findings yield new evidence for, but do not resolve, the debate on posttraumatic epileptogenesis.

Adult↗
PubMed1988

Association between alcoholism and increased hepatic iron stores.

Although alcoholic liver disease is often associated with some increase in hepatic iron stores, it is now established that when gross iron overload is present, this is due to genetic hemochromatosis. Furthermore, there appears to be a critical iron concentration necessary for the induction of hepatic fibrosis. Lipid peroxidation induced by ethanol and/or iron would appear to play a major role in hepatic damage in both humans and experimental animals. Although the exact mechanism(s) of induction of lipid peroxidation by ethanol and iron remains to be elucidated, both toxins can exert a synergistic effect upon hepatic lipid peroxidation. Iron overload has also been shown to stimulate directly hepatocyte and hepatic procollagen mRNA expression, which is further stimulated by ethanol. The observed synergism between iron and alcohol with respect to both hepatic lipid peroxidation and collagen biosynthesis offers a possible explanation of the apparent early onset of fibrosis and cirrhosis in patients with iron overload who have an excessive alcohol intake.

Hemochromatosis↗

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